Kathryn O’Keefe

Systematic evaluation of genome sequencing for the diagnostic assessment of autism spectrum disorder and fetal structural anomalies

Chelsea Lowther, Elise Valkanas, Jessica L. Giordano et al. · The American Journal of Human Genetics · 2023 · 54 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Tissue- and cell-type-specific molecular and functional signatures of 16p11.2 reciprocal genomic disorder across mouse brain and human neuronal models

Derek J.C. Tai, Parisa Razaz, Serkan Erdin et al. · The American Journal of Human Genetics · 2022 · 40 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Transcriptional and functional consequences of alterations to MEF2C and its topological organization in neuronal models

Kiana Mohajeri, Rachita Yadav, Eva D’haene et al. · The American Journal of Human Genetics · 2022 · 30 citations · Full text

Life Sciences, Cell Biology, Neuroscience +7

Dystonia-specific mutations in THAP1 alter transcription of genes associated with neurodevelopment and myelin

Aloysius Domingo, Rachita Yadav, Shivangi Shah et al. · The American Journal of Human Genetics · 2021 · 23 citations · Full text

Life Sciences, Molecular Biology, Molecular Genetics +17

Systematic evaluation of genome sequencing for the assessment of fetal structural anomalies

Chelsea Lowther, Elise Valkanas, Jessica L. Giordano et al. · bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17